Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Neutral lipid storage disease with myopathy


Other Names for this Disease
  • NLSDM
  • Neutral lipid storage disease without ichthyosis
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Neutral lipid storage disease with myopathy is a condition in which fats (lipids) are stored abnormally in organs and tissues throughout the body. The accumulation of fats in muscle tissue leads to muscle weakness (myopathy). This condition is caused by mutations in the PNPLA2 gene. It is inherited in an autosomal recessive pattern.[1] There is currently no treatment to correct the underlying metabolic problem.[2]
Last updated: 5/8/2014

References

  1. Neutral lipid storage disease with myopathy. Genetics Home Reference (GHR). February 2014; http://ghr.nlm.nih.gov/condition/neutral-lipid-storage-disease-with-myopathy. Accessed 5/8/2014.
  2. Fischer J, Negre-Salvayre A, Salvayre R. Neutral lipid storage disease. Orphanet. March 2007; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=165. Accessed 5/8/2014.
GARD Video Tutorials
GARD Video Tutorials
Learn how to find information on treatment, research, specialists, and more.
Your Questions Answered
Your Questions Answered
View questions about this condition answered by GARD Information Specialists. You can also submit a new question.

Basic Information

  • Genetics Home Reference (GHR) contains information on Neutral lipid storage disease with myopathy. This website is maintained by the National Library of Medicine.
  • DermNetNZ provides information on ichthyosis in general. DermNetNZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Neutral lipid storage disease with myopathy. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • NLSDM
  • Neutral lipid storage disease without ichthyosis
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.